title: Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
abstract: Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy.
authors.affiliation: Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Johanna
authors.initials: J
authors.lastname: Nilsson
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforet
authors.forename: Ognian
authors.initials: O
authors.lastname: Kalev
authors.forename: Christopher
authors.initials: C
authors.lastname: Lindberg
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Marcela
authors.initials: M
authors.lastname: Dávila López
authors.forename: Hasan O
authors.initials: HO
authors.lastname: Akman
authors.forename: Karim
authors.initials: K
authors.lastname: Wahbi
authors.forename: Stephan
authors.initials: S
authors.lastname: Iglseder
authors.forename: Christian
authors.initials: C
authors.lastname: Eggers
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D005260:Female; D015894:Genome, Human; D006008:Glycogen Storage Disease / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D009135:Muscular Diseases / Q000201:enzymology* / Q000209:etiology / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009422:Nervous System Diseases / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D014157:Transcription Factors / Q000172:deficiency*; D025801:Ubiquitin / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases; D055815:Young Adult
chemical_list: D014157:Transcription Factors; D025801:Ubiquitin; C504507:RBCK1 protein, human; D044767:Ubiquitin-Protein Ligases